Associated Papers
Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids.
Kysilov B et al.
Cellular and Molecular Life Sciences : Cmls, 2024
38214768 (PubMed )
Supplement: 18_2023_5062_MOESM1_ESM.docx
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › CFERV__additional_mutations_
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